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Disease Report for: Wolman disease WD, Cholesterol Ester Storage Disease, CESD

Alternative name(s)|Wolman disease
Wolman disease; WD
Lysosomal acid lipase Deficiency
LIPA Deficiency
LAL Deficiency
acid cholesteryl ester hydrolase Deficiency, Wolman type
cholesterol ester hydrolase Deficiency
cholesterol ester storage disease; CESD
cholesteryl ester storage disease
acid cholesteryl ester hydrolase Deficiency, type 2
Mutation|62 mutations (e.g. : 112kbdel_human-LIPA, A199CfsX12_human-LIPA, D145E_human-LIPA... more)
OMIM: |278000, 613497

(from OMIM) Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the human-LIPA gene. The relatively nonspecific clinical picture of Wolman disease (WD) includes poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance, and death by nutritional failure by 2 to 4 months of age.Sebelipase alfa (Kanuma(R), Kanuma), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D). CESD is distinct from WD in that at least one mutant allele has the potential to produce enough residual enzymatic function to ameliorate the phenotype; in the majority of CESD cases this may come from a single, easily detected, splicing mutation in one allele

    Title: Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party
    Lum SH, Minkov M, Jones SA, Hazelaar S, Sirait T, Potter JE, Stepensky P, Garban F, Pichler H and Wynn R <14 more author(s)>
    Ref: Bone Marrow Transplant, :, 2023 : PubMed


    Title: Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis
    Baronio F, Conti F, Miniaci A, Carfagnini F, Di Natale V, Di Donato G, Testi M, Totaro C, De Fanti A and Pession A <3 more author(s)>
    Ref: Mol Genet Metab Rep, 30:100833, 2022 : PubMed


    Title: Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five
    Cossette A, Castilloux J, Bouffard C, Laflamme J, Faure C, Benlamlih S, Abel F, Beecroft M, Francis M, Drouin R
    Ref: Can Liver J, 5:428, 2022 : PubMed


    Title: A systematic review of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases
    Katsigianni EI, Petrou P
    Ref: Cost Eff Resour Alloc, 20:51, 2022 : PubMed


    Title: Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency
    Lam P, Ashbrook A, Zygmunt DA, Yan C, Du H, Martin PT
    Ref: Mol Ther Methods Clin Dev, 26:413, 2022 : PubMed


    Title: Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
    Mashima R, Takada S
    Ref: Int J Mol Sci, 23:, 2022 : PubMed


    Title: A Novel Variant in the LIPA Gene Associated with Distinct Phenotype
    Sarajlija A, Armengol L, Maver A, Kitic I, Prokic D, Cehic M, Djuricic MS, Peterlin B
    Ref: Balkan Journal of Medical Genetics, 25:93, 2022 : PubMed


    Title: Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
    Sustar U, Groselj U, Trebusak Podkrajsek K, Mlinaric M, Kovac J, Thaler M, Drole Torkar A, Skarlovnik A, Battelino T, Hovnik T
    Ref: Front Genet, 13:936121, 2022 : PubMed


    Title: [A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation]
    Xiao ZJ, Liu SX, Zou B, Cheng HH, Xu H, Huang ZH, Shu SN
    Ref: Zhonghua Er Ke Za Zhi, 60:360, 2022 : PubMed


    Title: Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review
    Alabbas F, Elyamany G, Alanzi T, Ali TB, Albatniji F, Alfaraidi H
    Ref: BMC Pediatr, 21:72, 2021 : PubMed


    Title: A rare case of lysosomal acid lipase deficiency diagnosed by endoscopy
    Torres LD, Bonilha DQ, Diaz RG, de Carvalho RB, Montes CG
    Ref: Gastrointest Endosc, :, 2021 : PubMed


    Title: Progressive macrophage accumulation in lysosomal acid lipase deficiency
    Lipinski P, Cielecka-Kuszyk J, Bozkiewicz-Kasperczyk A, Perkowska B, Jurkiewicz E, Tylki-Szymanska A
    Ref: Mol Genet Metab Rep, 23:100594, 2020 : PubMed


    Title: Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature
    Rashu EB, Junker AE, Danielsen KV, Dahl E, Hamberg O, Borgwardt L, Christensen VB, Wewer Albrechtsen NJ, Gluud LL
    Ref: World J Clin Cases, 8:1642, 2020 : PubMed


    Title: Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights
    Cappuccio G, Donti TR, Hubert L, Sun Q, Elsea SH
    Ref: J Inherit Metab Dis, 42:509, 2019 : PubMed


    Title: Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation
    Leopold C, Duta-Mare M, Sachdev V, Goeritzer M, Maresch LK, Kolb D, Reicher H, Wagner B, Stojakovic T and Kratky D <4 more author(s)>
    Ref: Biochimica & Biophysica Acta Molecular & Cellular Biology Lipids, 1864:500, 2019 : PubMed


    Title: A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis
    Tinsa F, Ben Romdhane M, Boudabous H, Bel Hadj I, Brini I, Tebib N, Louati H, Bekri S, Boussetta K
    Ref: J Pediatr Hematol Oncol, 41:e193, 2019 : PubMed


    Title: Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
    Vinje T, Laerdahl JK, Bjune K, Leren TP, Strom TB
    Ref: Hum Mol Genet, 28:3043, 2019 : PubMed


    Title: Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan
    Ikari N, Shimizu A, Asano T
    Ref: J Nippon Med Sch, 85:131, 2018 : PubMed


    Title: Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa
    Santos Silva E, Klaudel-Dreszler M, Bakula A, Oliva T, Sousa T, Fernandes PC, Tylki-Szymanska A, Kamenets E, Martins E, Socha P
    Ref: Clin Res Hepatol Gastroenterol, 42:e77, 2018 : PubMed


    Title: Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
    Vinje T, Wierod L, Leren TP, Strom TB
    Ref: Mol Genet Metab, 123:169, 2018 : PubMed


    Title: Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency
    Wilson DP, Friedman M, Marulkar S, Hamby T, Bruckert E
    Ref: J Clin Lipidol, 12:604, 2018 : PubMed


    Title: Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
    Bay L, Canero Velasco C, Ciocca M, Cotti A, Cuarterolo M, Fainboim A, Fassio E, Galoppo M, Pinero F, Rozenfeld P
    Ref: Arch Argent Pediatr, 115:287, 2017 : PubMed


    Title: The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency
    Erwin AL
    Ref: Therap Adv Gastroenterol, 10:553, 2017 : PubMed


    Title: Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
    Jones SA, Rojas-Caro S, Quinn AG, Friedman M, Marulkar S, Ezgu F, Zaki O, Gargus JJ, Hughes J and Valayannopoulos V <6 more author(s)>
    Ref: Orphanet J Rare Dis, 12:25, 2017 : PubMed


    Title: Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2
    Lukacs Z, Barr M, Hamilton J
    Ref: Clinica Chimica Acta, 471:201, 2017 : PubMed


    Title: Cholesteryl Ester Storage Disease: An underdiagnosed cause of cirrhosis in adults
    Pant M, Oshima K
    Ref: Ann Diagn Pathol, 31:66, 2017 : PubMed


    Title: Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants
    Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L and Calandra S <7 more author(s)>
    Ref: Atherosclerosis, 265:124, 2017 : PubMed


    Title: A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease
    Tovoli F, Napoli L, Negrini G, D'Addato S, Tozzi G, D'Amico J, Piscaglia F, Bolondi L
    Ref: Int J Mol Sci, 18:, 2017 : PubMed


    Title: Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
    Elsayed S, Elsobky E, Tantawy A, Ragab E, Gil M, Lambert N, de Saint Basile G
    Ref: Egyptian J Med Hum Genet, 17:277, 2016 : PubMed


    Title: Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency
    Frampton JE
    Ref: Am J Cardiovasc Drugs, 16:461, 2016 : PubMed


    Title: Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report
    Kuranobu N, Murakami J, Okamoto K, Nishimura R, Murayama K, Takamura A, Umeda T, Eto Y, Kanzaki S
    Ref: Hepatol Res, 46:477, 2016 : PubMed


    Title: Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency
    Paton DM
    Ref: Drugs Today (Barc), 52:287, 2016 : PubMed


    Title: Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
    Su K, Donaldson E, Sharma R
    Ref: Appl Clin Genet, 9:157, 2016 : PubMed


    Title: A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
    Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sanchez A, Deegan P and Quinn AG <21 more author(s)>
    Ref: N Engl J Med, 373:1010, 2015 : PubMed


    Title: New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease)
    Gomez-Najera M, Barajas-Medina H, Gallegos-Rivas MC, Mendez-Sashida P, Goss KA, Sims KB, Tripuraneni R, Valles-Ayoub Y
    Ref: J Pediatr Gastroenterol Nutr, 60:e22, 2015 : PubMed


    Title: Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
    Santillan-Hernandez Y, Almanza-Miranda E, Xin WW, Goss K, Vera-Loaiza A, Gorraez-de la Mora MT, Pina-Aguilar RE
    Ref: World J Gastroenterol, 21:1001, 2015 : PubMed


    Title: Sebelipase alfa: first global approval
    Shirley M
    Ref: Drugs, 75:1935, 2015 : PubMed


    Title: Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease
    Civallero G, De Mari J, Bittar C, Burin M, Giugliani R
    Ref: Gene, 539:154, 2014 : PubMed


    Title: A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease
    Dairaku T, Iwamoto T, Nishimura M, Endo M, Ohashi T, Eto Y
    Ref: Mol Genet Metab, 111:193, 2014 : PubMed


    Title: Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency
    Valayannopoulos V, Malinova V, Honzik T, Balwani M, Breen C, Deegan PB, Enns GM, Jones SA, Kane JP and Quinn AG <13 more author(s)>
    Ref: Journal of Hepatology, 61:1135, 2014 : PubMed


    Title: Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease
    Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S
    Ref: Mol Genet Metab, 105:450, 2012 : PubMed


    Title: A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2
    Hamilton J, Jones I, Srivastava R, Galloway P
    Ref: Clinica Chimica Acta, 413:1207, 2012 : PubMed


    Title: [Wolman disease with novel mutation of LIPA gene in a Chinese infant]
    Huang YL, Sheng HY, Zhao XY, Yu JK, Li L, Liu HS, Gu CM, He DM, Liu L
    Ref: Zhonghua Er Ke Za Zhi, 50:601, 2012 : PubMed


    Title: Structural bases of Wolman disease and cholesteryl ester storage disease
    Saito S, Ohno K, Suzuki T, Sakuraba H
    Ref: Mol Genet Metab, 105:244, 2012 : PubMed


    Title: Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry
    Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, Kahen T, Darvish D
    Ref: Genet Test Mol Biomarkers, 15:395, 2011 : PubMed


    Title: A case of cholesterol ester storage disease with hyperlipidemia and liver dysfunction
    Yorifuji T, Ide M, Nagai S
    Ref: Clinical Endocrinology (Oxf), 58 (Suppl):187, 2010 : PubMed


    Title: Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene
    Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S
    Ref: Mol Genet Metab, 97:143, 2009 : PubMed


    Title: Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice
    Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA
    Ref: J Lipid Res, 49:1646, 2008 : PubMed


    Title: A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease
    Hooper AJ, Tran HA, Formby MR, Burnett JR
    Ref: Clinica Chimica Acta, 398:152, 2008 : PubMed


    Title: Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report
    Drebber U, Andersen M, Kasper HU, Lohse P, Stolte M, Dienes HP
    Ref: World J Gastroenterol, 11:2364, 2005 : PubMed


    Title: Lysosomal Acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice
    Du H, Heur M, Witte DP, Ameis D, Grabowski GA
    Ref: Hum Gene Therapy, 13:1361, 2002 : PubMed


    Title: Enzyme therapy for lysosomal acid lipase deficiency in the mouse
    Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski GA
    Ref: Hum Mol Genet, 10:1639, 2001 : PubMed


    Title: Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase
    Tietge UJ, Sun G, Czarnecki S, Yu Q, Lohse P, Du H, Grabowski GA, Glick JM, Rader DJ
    Ref: Hum Gene Therapy, 12:279, 2001 : PubMed


    Title: Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease
    Zschenker O, Jung N, Rethmeier J, Trautwein S, Hertel S, Zeigler M, Ameis D
    Ref: J Lipid Res, 42:1033, 2001 : PubMed


    Title: Wolman disease successfully treated by bone marrow transplantation
    Krivit W, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, Anderson R
    Ref: Bone Marrow Transplant, 26:567, 2000 : PubMed


    Title: Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease
    Lohse P, Maas S, Elleder M, Kirk JM, Besley GT, Seidel D
    Ref: J Lipid Res, 41:23, 2000 : PubMed


    Title: Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease
    Anderson RA, Bryson GM, Parks JS
    Ref: Mol Genet Metab, 68:333, 1999 : PubMed


    Title: Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease
    Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D
    Ref: J Lipid Res, 40:221, 1999 : PubMed


    Title: Fatal genetic defect causing Wolman disease.
    Mayatepek E, Seedorf U, Wiebusch H, Lenhartz H, Assmann G
    Ref: J Inherit Metab Dis, 22:93, 1999 : PubMed


    Title: Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage
    Du H, Duanmu M, Witte D, Grabowski GA
    Ref: Hum Mol Genet, 7:1347, 1998 : PubMed


    Title: Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease
    Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA
    Ref: Mol Genet Metab, 64:126, 1998 : PubMed


    Title: A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease
    Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T
    Ref: Hum Mutat, 11:335, 1998 : PubMed


    Title: Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
    Ries S, Buchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P and Schmitz G <3 more author(s)>
    Ref: Hum Mutat, 12:44, 1998 : PubMed


    Title: Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase
    Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T
    Ref: Biochemical & Molecular Medicine, 62:42, 1997 : PubMed


    Title: Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase
    Rothe G, Stohr J, Fehringer P, Gasche C, Schmitz G
    Ref: Atherosclerosis, 130:215, 1997 : PubMed


    Title: Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity
    Aslanidis C, Ries S, Fehringer P, Buchler C, Klima H, Schmitz G
    Ref: Genomics, 33:85, 1996 : PubMed


    Title: A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease
    Fujiyama J, Sakuraba H, Kuriyama M, Fujita T, Nagata K, Nakagawa H, Osame M
    Ref: Hum Mutat, 8:377, 1996 : PubMed


    Title: A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations
    Muntoni S, Wiebusch H, Funke H, Seedorf U, Roskos M, Schulte H, Saku K, Arakawa K, Balestrieri A, Assmann G
    Ref: Hum Genet, 97:265, 1996 : PubMed


    Title: Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease
    Pagani F, Garcia R, Pariyarath R, Stuani C, Gridelli B, Paone G, Baralle FE
    Ref: Hum Mol Genet, 5:1611, 1996 : PubMed


    Title: A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred
    Ries S, Aslanidis C, Fehringer P, Carel JC, Gendrel D, Schmitz G
    Ref: J Lipid Res, 37:1761, 1996 : PubMed


    Title: Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
    Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G
    Ref: Hum Genet, 95:491, 1995 : PubMed


    Title: A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease
    Seedorf U, Wiebusch H, Muntoni S, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G
    Ref: Arterioscler Thromb Vasc Biol, 15:773, 1995 : PubMed


    Title: [Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease]
    Tanaka A
    Ref: Nihon Rinsho, 53:3004, 1995 : PubMed


    Title: Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease
    Anderson RA, Byrum RS, Coates PM, Sando GN
    Ref: Proceedings of the National Academy of Sciences of the United States of America, 91:2718, 1994 : PubMed


    Title: Genomic organization of the human lysosomal acid lipase gene (LIPA)
    Aslanidis C, Klima H, Lackner KJ, Schmitz G
    Ref: Genomics, 20:329, 1994 : PubMed


    Title: A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease
    Pagani F, Zagato L, Merati G, Paone G, Gridelli B, Maier JA
    Ref: Hum Mol Genet, 3:1605, 1994 : PubMed


    Title: In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3
    Anderson RA, Rao N, Byrum RS, Rothschild CB, Bowden DW, Hayworth R, Pettenati M
    Ref: Genomics, 15:245, 1993 : PubMed


    Title: A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease
    Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G
    Ref: J Clinical Investigation, 92:2713, 1993 : PubMed


    Title: Molecular genetics of cholesterol ester hydrolase deficiency. (Abstract)
    Maslen CL, Illingworth DR
    Ref: American Journal of Human Genetics, 53 (suppl.):A926, 1993 : PubMed


    Title: Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases
    Roytta M, Fagerlund AS, Toikkanen S, Salmi TT, Jorde LB, Forsius HR, Eriksson AW
    Ref: Clin Genet, 42:1, 1992 : PubMed


    Title: Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin
    Yokoyama S, McCoy E
    Ref: J Inherit Metab Dis, 15:291, 1992 : PubMed


    Title: Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases
    Anderson RA, Sando GN
    Ref: Journal of Biological Chemistry, 266:22479, 1991 : PubMed


    Title: Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin
    Di Bisceglie AM, Ishak KG, Rabin L, Hoeg JM
    Ref: Hepatology, 11:764, 1990 : PubMed


    Title: Genetic lipid storage disease with lysosomal acid lipase deficiency in rats.
    Yoshida H, Kuriyama M
    Ref: Lab Anim Sci, 40:486, 1990 : PubMed


    Title: Cholesteryl ester storage disease: pathologic changes in an affected fetus
    Desai PK, Astrin KH, Thung SN, Gordon RE, Short MP, Coates PM, Desnick RJ
    Ref: American Journal of Medicine Genet, 26:689, 1987 : PubMed


    Title: Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD)
    Cagle PT, Ferry GD, Beaudet AL, Hawkins EP
    Ref: American Journal of Medicine Genet, 24:711, 1986 : PubMed


    Title: Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency
    Chatterjee S, Castiglione E, Kwiterovich PO, Jr., Hoeg JM, Brewer HB
    Ref: Clin Genet, 29:360, 1986 : PubMed


    Title: Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis
    Besley GT, Broadhead DM, Lawlor E, McCann SR, Dempsey JD, Drury MI, Crowe J
    Ref: Clin Genet, 26:195, 1984 : PubMed


    Title: Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency
    Hoeg JM, Demosky SJ, Jr., Pescovitz OH, Brewer HB, Jr.
    Ref: American Journal of Human Genetics, 36:1190, 1984 : PubMed


    Title: Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease
    Burton BK, Reed SP
    Ref: American Journal of Human Genetics, 33:203, 1981 : PubMed


    Title: Prenatal monitoring for Wolman's disease in a pregnancy at risk: first case in the Federal Republic of Germany
    Christomanou H, Cap C
    Ref: Hum Genet, 57:440, 1981 : PubMed


    Title: Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19
    Koch G, Lalley PA, McAvoy M, Shows TB
    Ref: Somatic Cell Genet, 7:345, 1981 : PubMed


    Title: Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification
    Schaub J, Janka GE, Christomanou H, Sandhoff K, Permanetter W, Hubner G, Meister P
    Ref: Eur J Pediatr, 135:45, 1980 : PubMed


    Title: Wolman's disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems
    Byrd JC, 3rd, Powers JM
    Ref: Acta Neuropathologica, 45:37, 1979 : PubMed


    Title: Assignment of lipase A (LIPA) to human chromosome 10. (Abstract)
    Koch GA, McAvoy M, Naylor SL, Byers MG, Haley LL, Eddy RL, Brown JA, Shows TB
    Ref: Cytogenet Cell Genet, 25:174, 1979 : PubMed


    Title: Prenatal diagnosis of Wolman disease
    Coates PM, Cortner JA, Mennuti MT, Wheeler JE
    Ref: American Journal of Medicine Genet, 2:397, 1978 : PubMed


    Title: Cholesterol ester storage disease: clinical, biochemical, and pathological studies
    Beaudet AL, Ferry GD, Nichols BL, Jr., Rosenberg HS
    Ref: J Pediatr, 90:910, 1977 : PubMed


    Title: Genetic variation of lysosomal acid lipase
    Cortner JA, Coates PM, Swoboda E, Schnatz JD
    Ref: Pediatr Res, 10:927, 1976 : PubMed


    Title: Enzyme deficiency in cholesteryl ester storage idisease
    Sloan HR, Fredrickson DS
    Ref: J Clinical Investigation, 51:1923, 1972 : PubMed


    Title: Histochemical detection of the enzyme deficiency in blood films in Wolman's disease
    Lake BD
    Ref: Journal of Clinical Pathology, 24:617, 1971 : PubMed


    Title: Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes
    Lake BD, Patrick AD
    Ref: J Pediatr, 76:262, 1970 : PubMed


    Title: Wolman's disease. An electron microscopic, histochemical, and biochemical study
    Lough J, Fawcett J, Wiegensberg B
    Ref: Arch Pathol, 89:103, 1970 : PubMed


    Title: Deficiency of acid esterase activity in Wolman's disease
    Young EP, Patrick AD
    Ref: Arch Dis Child, 45:664, 1970 : PubMed


    Title: Wolman's disease. A rare lipidosis with adrenal calcification
    Marshall WC, Ockenden BG, Fosbrooke AS, Cumings JN
    Ref: Arch Dis Child, 44:331, 1969 : PubMed


    Title: Deficiency of an acid lipase in Wolman's disease
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    Ref: Nature, 222:1067, 1969 : PubMed


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